GI - Eponymous syndromes: Budd-Chiari, Gilbert, Haemachromatosis, Wilson’s disease, Peutz-Jegher’s Flashcards
What is Budd-Chiari syndrome?
- Seen in context of underlying haematological disease or pro-coagulant conditions
- V rare condition - caused by occlusion of the hepatic veins that drain the liver.
- Course: can be fulminant, acute, chronic, or asymptomatic.
Name 4 causes of Budd-Chiari syndrome
- Polycythaemia Vera
- thrombophilia: activated protein C resistance, antithrombin III deficiency, protein C and S deficiencies
- Pregnancy
- OCP
What is the classic presentation of Budd-Chiari syndrome?
- Abdo pain: suddenly onset, severe
- Ascites
- Tender hepatomegaly
What is Gilbert’s syndrome?
- Autosomal recessive condition of defective bilirubin conjugation due to deficiency of UDP glucuronyl-transferase.
- Prevalence is 1-2% in general population
What are the features of Gilbert’s syndrome?
- Unconjugated hyperbilirubinaemia (ie not in urine)
- Jaundice may only be seen during an inter current illness
- Typical Hx: young person develops jaundice a few days after a flu/illness
What are the Ix and Mx for Gilbert’s syndrome?
- Ix: rise in bilirubin following prolonged fasting or IV nicotinic acid
- No Rx required
What is haemochromatosis? How are pts in early disease stages?
- Autosomal recessive disorder of iron absorption and metabolism - results in iron accumulation
- Caused by inheritance of mutations in HFE gene on both copies of chromosome 6
- Often asymptomatic in early disease and initial symptoms often non specific - eg lethargy and arthralgia
Name some presenting features of haemochromatosis
- Early symptoms: fatigue, erectile dysfunction and arthralgia (hands)
- bronze skin pigmentation
- DM
- Liver: stigmata of chronic disease - hepatomegaly, cirrhosis
- Cardiac failure: 2nd to dilated cardiomyopathy
- hypogonadism: 2nd to cirrhosis and pituitary dysfunction
- arthritis (esp hands)
Haemochromatosis: Ix
Diagnostic tests:
- molecular genetic testing
- liver biopsy: Perl’s stain
Typical iron study profile:
- Transferring saturation >55% men, >50% in women
- raised ferritin: eg >500ug/l and iron
- Low total iron binding capacity (TIBC)
Imaging
-Joint X-rays: chondrocalcinosis
Haemochromatosis: Mx
- 1st line rx: venesection
- Must monitor adequacy of venesection: transferrin saturation should be below 50% and serum ferritin below 50ug/L
What is Peutz-Jegher’s syndrome? What is the mode of inheritance?
- Autosomal dominant condition: characterised by numerous hamartomatous polyps in the GI tract
- Autosomal dominant - responsible gene encodes serine threonine kinase LKB1 or STK11
What are the features of Peutz-Jeghers syndrome?
- Hamartomatous polyps in GI tract (mainly small bowel)
- Pigmented lesions on lips, oral mucosa, face, palms and soles
- Intestinal obstruction: eg intussusception
- GI bleeding
What is the Mx for Peutz-Jegher’s?
-Conservative mx unless complications develop
What is Wilson’s disease?
- Autosomal recessive disorder: excessive copper deposition in issues
- Metabolic abnormalities include: copper absorption from small untested and decreased hepatic copper excretion
- Onset of symptoms: 10-25 years
- Typical presentation: children present with liver disease and young adults present with neurological impairment with liver problems.
Outline some features of Wilson’s disease
Symptoms caused by excessive copper deposits in tissues
- liver: hepatitis, cirrhosis
- neurological: basal ganglia degeneration, speech, behaviour and psych problems (often 1st manifestation), asterisks, chorea, dementia
- Kayser-Fleischer rings in eyes
- RTA (esp in fanconi syndrome)
- haemolysis
- blue nails
